COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome

COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome

Introduction: Alport syndrome (AS) is an inherited kidney disease caused by variants in the COL4A3, COL4A4, or COL4A5 genes, resulting in type IV collagen abnormalities. Although autosomal dominant variants in COL4A3 and COL4A4 are increasingly being diagnosed, X-linked AS (XLAS) caused by COL4A5 va...

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Main Authors: Hideaki Kitakado, Tomoko Horinouchi, Shuhei Aoyama, Yuka Kimura, Yuta Inoki, Yu Tanaka, Chika Ueda, Yuya Aoto, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Rini Rossanti, Masafumi Matsuo, Kandai Nozu
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:Kidney International Reports
Subjects:
Alport syndrome
COL4A5
inherited kidney disease
intronic variant
minigene assay
splicing
Online Access:http://www.sciencedirect.com/science/article/pii/S2468024924020370
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